{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T22:06:53Z","timestamp":1759702013811},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,9,24]],"date-time":"2013-09-24T00:00:00Z","timestamp":1379980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label \/><jats:p>Ablepharon macrostomia syndrome (AMS; OMIM 200110) is an extremely rare congenital malformation syndrome. It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either <jats:italic>FRAS1<\/jats:italic>, <jats:italic>FREM2<\/jats:italic>, or <jats:italic>GRIP1<\/jats:italic>, encoding components of a protein complex that plays a role in epidermal\u2013dermal interactions during morphogenetic processes. We explored the hypothesis that AMS might be either allelic to FS or caused by mutations in other genes encoding known FRAS1 interacting partners. No mutation in either of these genes was found in a cohort of 11 patients with AMS from 10 unrelated families. These findings demonstrate that AMS is genetically distinct from FS. It is proposed that it constitutes a separate entity within the group of FRAS\u2013FREM complex disorders. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36119","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T21:46:14Z","timestamp":1381527974000},"page":"3012-3017","source":"Crossref","is-referenced-by-count":7,"title":["Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS\u2013FREM complex disorders"],"prefix":"10.1002","volume":"161","author":[{"given":"Denny","family":"Schanze","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Harakalova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy A.","family":"Stevens","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics T.C. 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